The Human Pangenome Project: a global resource to map genomic diversity.

ABSTRACT: The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partn

SUBMITTER: Wang T 

PROVIDER: S-EPMC9402379 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature